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Patellar subluxation

MedGen UID:
163635
Concept ID:
C0857276
Pathologic Function
Synonyms: Subluxation of patella; Subluxation of patellae; Subluxation of the patellae
 
HPO: HP:0010499

Definition

The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPatellar subluxation

Conditions with this feature

Congenital contractural arachnodactyly
MedGen UID:
67391
Concept ID:
C0220668
Congenital Abnormality
Congenital contractural arachnodactyly (CCA) appears to comprise a broad phenotypic spectrum. Classic CCA is characterized by arachnodactyly; flexion contractures of multiple joints including elbows, knees, hips, ankles, and/or fingers; kyphoscoliosis (usually progressive); a marfanoid habitus (a long and slender build, dolichostenomelia, pectus deformity, muscular hypoplasia, highly arched palate); and abnormal "crumpled" ears. At the mildest end, parents who are diagnosed retrospectively upon evaluation of their more severely affected child may show a lean body build, mild arachnodactyly, mild contractures without impairment, and minor ear abnormalities. At the most severe end is "severe CCA with cardiovascular and/or gastrointestinal anomalies," a rare phenotype in infants with pronounced features of CCA (severe crumpling of the ears, arachnodactyly, contractures, congenital scoliosis, and/or hypotonia) and severe cardiovascular and/or gastrointestinal anomalies. Phenotypic expression can vary within and between families.
Prieto syndrome
MedGen UID:
374294
Concept ID:
C1839730
Disease or Syndrome
Prieto syndrome (PRS) is an X-linked intellectual developmental disorder characterized by mildly to severely impaired intellectual development, developmental delay, autism spectrum disorder, or neuropsychiatric symptoms, variably accompanied by speech delay, epilepsy, microcephaly, structural brain defects, and minor facial anomalies (summary by Kury et al., 2022).
Macrocephaly/megalencephaly syndrome, autosomal recessive
MedGen UID:
812742
Concept ID:
C3806412
Disease or Syndrome
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
Tatton-Brown-Rahman overgrowth syndrome
MedGen UID:
862982
Concept ID:
C4014545
Disease or Syndrome
Tatton-Brown-Rahman syndrome (TBRS) is an overgrowth / intellectual disability syndrome characterized by length/height and/or head circumference =2 SD above the mean for age and sex, obesity / increased weight, intellectual disability that ranges from mild to severe, joint hypermobility, hypotonia, behavioral/psychiatric issues, kyphoscoliosis, and seizures. Individuals with TBRS have subtle dysmorphic features, including a round face with coarse features, thick horizontal low-set eyebrows, narrow (as measured vertically) palpebral fissures, and prominent upper central incisors. The facial gestalt is most easily recognizable in the teenage years. TBRS may be associated with an increased risk of developing acute myeloid leukemia. There are less clear associations with aortic root dilatation and increased risk of other hematologic and solid tumors.

Professional guidelines

PubMed

Parikh SN, Schlechter JA, Veerkamp MW, Stacey JD, Gupta R, Pendleton AM, Shea KG, Friel NA, Molony JT Jr, Yaniv M, Rhodes J, Finlayson CJ, Williams BA, Ellington M; PRISM Patellofemoral Research Interest Group (PRISM PF RIG)
J Pediatr Orthop 2024 Apr 1;44(4):e369-e374. Epub 2024 Jan 24 doi: 10.1097/BPO.0000000000002616. PMID: 38258884
Saper MG, Shneider DA
Am J Orthop (Belle Mead NJ) 2015 Nov;44(11):499-504. PMID: 26566549
Fulkerson JP
Am J Sports Med 2002 May-Jun;30(3):447-56. doi: 10.1177/03635465020300032501. PMID: 12016090

Recent clinical studies

Etiology

Rainey JP, Blackburn BE, Moore ZJ, Archibeck MJ, Pelt CE, Anderson LA, Gililland JM
J Arthroplasty 2024 Aug;39(8S1):S317-S322. Epub 2024 Mar 1 doi: 10.1016/j.arth.2024.02.076. PMID: 38432530
Watts RE, Gorbachova T, Fritz RC, Saad SS, Lutz AM, Kim J, Chaudhari AS, Shea KG, Sherman SL, Boutin RD
Radiographics 2023 Jun;43(6):e220177. doi: 10.1148/rg.220177. PMID: 37261964Free PMC Article
Smith TO, Gaukroger A, Metcalfe A, Hing CB
Cochrane Database Syst Rev 2023 Jan 24;1(1):CD008106. doi: 10.1002/14651858.CD008106.pub4. PMID: 36692346Free PMC Article
Han Y, Duan D, Zhao K, Wang X, Ouyang L, Liu G
J Foot Ankle Surg 2017 Jan-Feb;56(1):15-18. doi: 10.1053/j.jfas.2016.10.001. PMID: 27989338
Kujala UM, Jaakkola LH, Koskinen SK, Taimela S, Hurme M, Nelimarkka O
Arthroscopy 1993;9(2):159-63. doi: 10.1016/s0749-8063(05)80366-4. PMID: 8461073

Diagnosis

Watts RE, Gorbachova T, Fritz RC, Saad SS, Lutz AM, Kim J, Chaudhari AS, Shea KG, Sherman SL, Boutin RD
Radiographics 2023 Jun;43(6):e220177. doi: 10.1148/rg.220177. PMID: 37261964Free PMC Article
Khan SA, Baghdadi S, Carey JL, Moores TS, Sheth NP, Ganley T
J Am Acad Orthop Surg Glob Res Rev 2021 Dec 2;5(12) doi: 10.5435/JAAOSGlobal-D-21-00155. PMID: 34860734
Hong E, Kraft MC
Med Clin North Am 2014 Jul;98(4):697-717, xi. doi: 10.1016/j.mcna.2014.03.001. PMID: 24994047
Redziniak DE, Diduch DR, Mihalko WM, Fulkerson JP, Novicoff WM, Sheibani-Rad S, Saleh KJ
Instr Course Lect 2010;59:195-206. PMID: 20415380
Kujala UM, Jaakkola LH, Koskinen SK, Taimela S, Hurme M, Nelimarkka O
Arthroscopy 1993;9(2):159-63. doi: 10.1016/s0749-8063(05)80366-4. PMID: 8461073

Therapy

Rainey JP, Blackburn BE, Moore ZJ, Archibeck MJ, Pelt CE, Anderson LA, Gililland JM
J Arthroplasty 2024 Aug;39(8S1):S317-S322. Epub 2024 Mar 1 doi: 10.1016/j.arth.2024.02.076. PMID: 38432530
Hood M, Rowe TM, Valenzeula MM, McBride B, Odum S, Fehring TK
J Am Acad Orthop Surg 2023 Mar 15;31(6):300-304. Epub 2023 Jan 6 doi: 10.5435/JAAOS-D-22-00539. PMID: 36728385
Smith TO, Gaukroger A, Metcalfe A, Hing CB
Cochrane Database Syst Rev 2023 Jan 24;1(1):CD008106. doi: 10.1002/14651858.CD008106.pub4. PMID: 36692346Free PMC Article
Hong E, Kraft MC
Med Clin North Am 2014 Jul;98(4):697-717, xi. doi: 10.1016/j.mcna.2014.03.001. PMID: 24994047
Pongcharoen B, Yakampor T, Charoencholvanish K
Clin Orthop Relat Res 2013 May;471(5):1654-60. Epub 2013 Jan 30 doi: 10.1007/s11999-012-2778-5. PMID: 23361929Free PMC Article

Prognosis

Han Y, Duan D, Zhao K, Wang X, Ouyang L, Liu G
J Foot Ankle Surg 2017 Jan-Feb;56(1):15-18. doi: 10.1053/j.jfas.2016.10.001. PMID: 27989338
Pongcharoen B, Yakampor T, Charoencholvanish K
Clin Orthop Relat Res 2013 May;471(5):1654-60. Epub 2013 Jan 30 doi: 10.1007/s11999-012-2778-5. PMID: 23361929Free PMC Article
Redziniak DE, Diduch DR, Mihalko WM, Fulkerson JP, Novicoff WM, Sheibani-Rad S, Saleh KJ
Instr Course Lect 2010;59:195-206. PMID: 20415380
van Jonbergen HP, Werkman DM, Barnaart LF, van Kampen A
J Arthroplasty 2010 Oct;25(7):1066-71. Epub 2010 Jan 6 doi: 10.1016/j.arth.2009.08.023. PMID: 20056375
Brick GW, Scott RD
Clin Orthop Relat Res 1988 Jun;(231):163-78. PMID: 3286074

Clinical prediction guides

Kleeman-Forsthuber LT, Owens JM, Johnson RM, Clary CW, Elkins JM, Dennis DA
J Arthroplasty 2024 Aug;39(8S1):S70-S79. Epub 2024 May 10 doi: 10.1016/j.arth.2024.05.007. PMID: 38735546
Smith TO, Gaukroger A, Metcalfe A, Hing CB
Cochrane Database Syst Rev 2023 Jan 24;1(1):CD008106. doi: 10.1002/14651858.CD008106.pub4. PMID: 36692346Free PMC Article
Gulbrandsen MT, Hartigan D, Rice RC, Ruckle DE, Patel K, Chhabra A
Iowa Orthop J 2022 Jun;42(1):187-192. PMID: 35821954Free PMC Article
Cerciello S, Lustig S, Costanzo G, Neyret P
Knee Surg Sports Traumatol Arthrosc 2014 Oct;22(10):2505-12. Epub 2014 Jul 25 doi: 10.1007/s00167-014-3171-6. PMID: 25059335
Kujala UM, Jaakkola LH, Koskinen SK, Taimela S, Hurme M, Nelimarkka O
Arthroscopy 1993;9(2):159-63. doi: 10.1016/s0749-8063(05)80366-4. PMID: 8461073

Recent systematic reviews

Smith TO, Gaukroger A, Metcalfe A, Hing CB
Cochrane Database Syst Rev 2023 Jan 24;1(1):CD008106. doi: 10.1002/14651858.CD008106.pub4. PMID: 36692346Free PMC Article
Yang F, Guo W, Wang Q, Zhu Z, Guan C, Zhao S, Yuan B
Medicine (Baltimore) 2019 Jul;98(29):e16338. doi: 10.1097/MD.0000000000016338. PMID: 31335681Free PMC Article
Cerciello S, Lustig S, Costanzo G, Neyret P
Knee Surg Sports Traumatol Arthrosc 2014 Oct;22(10):2505-12. Epub 2014 Jul 25 doi: 10.1007/s00167-014-3171-6. PMID: 25059335

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